Author:
Griffith Andrew J.,Arts H. Alexander,Downs Catherine,Innis Jeffrey W.,Shepard Neil T.,Sheldon Susan,Gebarski Stephen S.
Abstract
AbstractThe large vestibular aqueduct syndrome (LVAS) is a distinct clinical entity characterized by stepwise progressive sensorineural hearing loss associated with isolated enlargement of the vestibular aqueduct.A correlative clinical, audiologic, vestibular, cytogenetic, and radiographic analysis of a family with inherited LVAS was performed. The male proband and his affected brother are offspring of unaffected parents, and have no other abnormalities. Pedigree analysis suggests autosomal recessive or X‐linked inheritance with variable expressivity of LVAS in this family.This study is the first description of familial inheritance of LVAS. LVAS may account for a significant number of patients with nonsyndromal, genetic sensorineural hearing loss. Future molecular analyses of this study family may identify the causative gene(s) in LVAS.
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